Don M. Bradley

Newborn screening for Duchenne muscular dystrophy: a psychosocial study

Objective: To evaluate the psychosocial implications of newborn screening for Duchenne muscular dystrophy. Design: Prospective psychosocial assessment. Setting: Primary care. Respondents: Study: (a) families of an affected boy identified by screening (n = 20); (b) families of a boy with a transient screening abnormality (n = 18). Control: (a) families of a boy with a later clinical diagnosis (n = 16); (b) random sample of mothers of boys aged 6–9 months (n = 43). Interventions: Questionnaires and semistructured interviews. Main outcome measures: Attitudes to newborn screening and impact of screening on mother-baby relationship, anxiety/wellbeing, and reproductive patterning within families of an affected boy. Results: Most families of an affected boy were in favour of newborn screening on the grounds of reproductive choice and time to prepare emotionally and practically. There was no evidence of any long term disruption to the mother-baby relationship. Anxiety levels for the screened group were slightly above threshold but returned to normal during the period of the study. There was no evidence, from anxiety or wellbeing scores, that the transient group had suffered any disadvantage. Although the profile of the screened and later clinically diagnosed cohorts was similar after diagnosis, when boys from the screened cohort were 4 years old and more socially aware, their profile was more positive. There was evidence that reproductive patterning had been modified, and four fetuses carrying a mutation causing Duchenne muscular dystrophy were terminated. Conclusion: A case can be made for newborn screening provided that the test is optional, a rigorous protocol for service delivery is used, and an infrastructure providing continuing support is in place.

Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

Duchenne muscular dystrophy (DMD), a progressive X-linked neuromuscular disorder, has an estimated worldwide incidence of 1:3500 male births. Currently, there are no curative treatments and the mean age of diagnosis is 5 years. In addition, subsequent pregnancies frequently occur before a diagnosis is made in an index case. An ‘opt in’ screening programme was introduced in Wales in 1990 with the aim to: reduce the diagnostic delay, permit reproductive choice and allow planning of the care of the affected boy. Newborn bloodspots were collected routinely as part of the Wales newborn screening programme. Specific consent was obtained for this test separately from the other tests. During the 21-year period, 369 780 bloodspot cards were received from male infants, of these 343 170 (92.8%) were screened using a bloodspot creatine kinase (CK) assay following parental consent. A total of 145 cases had a raised CK activity (≥250 U/l) and at follow-up, at 6–8 weeks of age, 79 cases had a normal serum CK (false-positive rate 0.023%) and 66 cases had an elevated serum CK. DMD was confirmed in 56 cases by genotyping/muscle biopsy studies, Becker muscular dystrophy in 5 cases and other rarer forms of muscular dystrophy in 5 cases. This long-term study has so far identified 13 false-negative cases. The incidence of DMD in Wales of 1:5136 during this period is lower than that of 1:4046 before commencement of screening in Wales. Screening has reduced the diagnostic delay enabling reproductive choice for parents of affected boys and earlier administration of current therapies.

Implications of carrier identification in newborn screening for cystic fibrosis

Objective: To investigate the psychosocial implications for families whose infant was identified as a cystic fibrosis carrier by newborn screening. Design: Prospective psychosocial assessment. Setting: Primary care. Respondents: Study: (a) families of an affected infant identified by screening (n = 9); (b) families of a carrier infant identified by screening (n = 10). Control: group of mothers from the general population (n = 82). Interventions: Questionnaires and semistructured interviews. Main outcome measures: Attitude to screening, assessments of the mother/baby relationship, anxiety, wellbeing. Results: All families were in favour of screening, with no evidence that the mother/baby relationship, anxiety or wellbeing had been adversely affected. Parents, however, did identify problems in terms of the service delivery protocol and genetic counselling practice. Conclusion: Six months after disclosure, carrier identification was not perceived by parents to be problematic.

Psychosocial issues in newborn screening for cystic fibrosis

Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implications of screening. This paper reviews the evidence on the psychosocial issues raised by newborn screening for cystic fibrosis, in particular the issues of parental attitudes to screening, the evidence from families with an affected infant, the evidence from families with a carrier infant and the lessons for service delivery.

Newborn screening for Duchenne muscular dystrophy

Duchenne muscular dystrophy is a lethal X-linked disease affecting males who then rarely survive beyond 20 years. The primary aim of world-wide newborn screening programmes for this disease is not to directly benefit the affected boy, but to enable choice in future pregnancies for the boys family. There may be secondary advantages for the management of the boy. Data from seven international centres are presented (over 1.2 million boys have now been tested) and psychosocial evidence about attitudes and outcomes in Wales.

Is the current threshold level for screening for congenital hypothyroidism too high? An audit of the clinical evaluation, confirmatory diagnostic tests and treatment of infants with increased blood spot thyroid-stimulating hormone concentrations identified on newborn blood spot screening in Wales

The UK Newborn Screening Programme has set standards for the identification, investigation and early management of children with congenital hypothyroidism. (1)

Feasibility of a Change in Service Delivery: The Case of Optional Newborn Screening for Duchenne Muscular Dystrophy

Objective: To examine the feasibility of introducing a new procedure for delivering newborn screening for Duchenne muscular dystrophy (DMD) which made the optional nature of the test explicit. Method: A consecutive cohort of parents with newborn baby boys was offered screening for DMD. When the baby was bled by the midwife (day 6/7) for routine tests, if the parents wanted the test, an extra spot of blood was put on a separate newborn screening sample card. The families were asked to post the sample card to the laboratory themselves. Results: The overall uptake of screening was 78% with the majority of parents (569/601 94.7%) notifying their decision about DMD screening to the laboratory. Conclusions: The new procedure was shown to be feasible for midwives, laboratory staff and the majority of parents. There are, however, added burdens and added benefits to both service provider and service user which need to be taken into account.